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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 9-121107843-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121107843&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CNTRL",
"hgnc_id": 1858,
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_007018.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0669,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.02981063723564148,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2325,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7719,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 6978,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_007018.6",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373855.7",
"protein_coding": true,
"protein_id": "NP_008949.4",
"strand": true,
"transcript": "NM_007018.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2325,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7719,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 6978,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000373855.7",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007018.6",
"protein_coding": true,
"protein_id": "ENSP00000362962.1",
"strand": true,
"transcript": "ENST00000373855.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5449,
"cdna_start": 987,
"cds_end": null,
"cds_length": 5103,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000373847.6",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362953.2",
"strand": true,
"transcript": "ENST00000373847.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2278,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7630,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 6837,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934490.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604549.1",
"strand": true,
"transcript": "ENST00000934490.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2278,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7377,
"cdna_start": 987,
"cds_end": null,
"cds_length": 6837,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963868.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633927.1",
"strand": true,
"transcript": "ENST00000963868.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2253,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7497,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 6762,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934491.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604550.1",
"strand": true,
"transcript": "ENST00000934491.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5456,
"cdna_start": 994,
"cds_end": null,
"cds_length": 5103,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369893.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356822.1",
"strand": true,
"transcript": "NM_001369893.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5462,
"cdna_start": 994,
"cds_end": null,
"cds_length": 4833,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369894.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356823.1",
"strand": true,
"transcript": "NM_001369894.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "I",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5498,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 4602,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369895.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Ile117Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356824.1",
"strand": true,
"transcript": "NM_001369895.1",
"transcript_support_level": null
},
{
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"aa_length": 466,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1402,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000373865.8",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362972.3",
"strand": true,
"transcript": "ENST00000373865.8",
"transcript_support_level": 5
},
{
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"aa_length": 379,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1140,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
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"feature": "NM_001369896.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356825.1",
"strand": true,
"transcript": "NM_001369896.1",
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},
{
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"aa_length": 277,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1040,
"cdna_start": 553,
"cds_end": null,
"cds_length": 836,
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"consequences": [
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],
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"feature": "ENST00000693191.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Ile117Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509059.1",
"strand": true,
"transcript": "ENST00000693191.1",
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},
{
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],
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"feature": "XM_047422667.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278623.1",
"strand": true,
"transcript": "XM_047422667.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 994,
"cds_end": null,
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"consequences": [
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],
"exon_count": 45,
"exon_rank": 7,
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"feature": "XM_047422668.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278624.1",
"strand": true,
"transcript": "XM_047422668.1",
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},
{
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"consequences": [
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],
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"exon_rank": 8,
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"feature": "XM_047422669.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047278625.1",
"strand": true,
"transcript": "XM_047422669.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 1167,
"cds_end": null,
"cds_length": 7023,
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"consequences": [
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],
"exon_count": 45,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011518166.3",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516468.1",
"strand": true,
"transcript": "XM_011518166.3",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"cdna_end": null,
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],
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"feature": "XM_011518167.1",
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"strand": true,
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},
{
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],
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"feature": "XM_047422670.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047278626.1",
"strand": true,
"transcript": "XM_047422670.1",
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},
{
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"cdna_start": 994,
"cds_end": null,
"cds_length": 6978,
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"consequences": [
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],
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"exon_rank": 7,
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"feature": "XM_047422682.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278638.1",
"strand": true,
"transcript": "XM_047422682.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 2321,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7707,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 6966,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422671.1",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278627.1",
"strand": true,
"transcript": "XM_047422671.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2315,
"aa_ref": "I",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7689,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 6948,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011518168.3",
"gene_hgnc_id": 1858,
"gene_symbol": "CNTRL",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Ile284Val",
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